Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Invitae | RCV001245146 | SCV001418416 | uncertain significance | Neuronopathy, distal hereditary motor, autosomal recessive 4; Charcot-Marie-Tooth disease recessive intermediate C | 2021-08-26 | criteria provided, single submitter | clinical testing | This variant, c.903_923del, results in the deletion of 7 amino acid(s) of the PLEKHG5 protein (p.Glu301_Glu307del), but otherwise preserves the integrity of the reading frame. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals affected with PLEKHG5-related conditions. Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. |
| Ambry Genetics | RCV002375298 | SCV002688039 | uncertain significance | Inborn genetic diseases | 2020-11-17 | criteria provided, single submitter | clinical testing | The c.903_923del21 variant (also known as p.E301_E307del) is located in coding exon 8 of the PLEKHG5 gene. This variant results from an in-frame deletion of 21 nucleotides at nucleotide positions 903 to 923. This results in the in-frame deletion of 7 amino acids at codons 301 to 307. This amino acid region is not well conserved in available vertebrate species. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear. |